Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Charcot-Marie-Tooth disease type 1E
Autosomal dominant
Childhood, Infancy
Charcot-Marie-Tooth disease type 1F
Autosomal dominant
Childhood, Infancy
Charcot-Marie-Tooth disease type 2B1
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 2B2
Autosomal recessive
Adult
Charcot-Marie-Tooth disease type 2B5
Autosomal recessive
Childhood, Infancy
Charcot-Marie-Tooth disease type 2H
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 2P
Autosomal dominant, Autosomal recessive
Adolescent, Adult
Charcot-Marie-Tooth disease type 2R
Autosomal recessive
Infancy
Charcot-Marie-Tooth disease type 2S
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Charcot-Marie-Tooth disease type 2T
Autosomal recessive
Adult
Charcot-Marie-Tooth disease type 4A
Autosomal recessive
Infancy, Neonatal
Charcot-Marie-Tooth disease type 4B1
Autosomal recessive
Infancy, Neonatal
Charcot-Marie-Tooth disease type 4B2
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4B3
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4C
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4D
Autosomal recessive
Adolescent, Childhood
Charcot-Marie-Tooth disease type 4E
Autosomal recessive
Infancy, Neonatal
Charcot-Marie-Tooth disease type 4F
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4G
Autosomal recessive
Adolescent, Childhood
Charcot-Marie-Tooth disease type 4H
Autosomal recessive
Infancy
Charcot-Marie-Tooth disease type 4J
Autosomal recessive
Adult, Childhood, Infancy
Cheilitis glandularis
Not applicable
Adolescent, Adult, Childhood, Elderly
Chikungunya
Not applicable
All ages
Chilblain lupus
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy